Department of Internal Medicine, Temple University/Conemaugh Valley Memorial Medical Center, 1086 Franklin Street, Johnstown, PA 15905, USA.
J Gen Intern Med. 2009 May;24(5):683-6. doi: 10.1007/s11606-009-0923-y. Epub 2009 Feb 28.
A 66-year-old male presented with visual hallucinations. He had chronically elevated serum creatine kinase (CK) levels without muscle weakness. His hospital course was complicated by hypercapnic respiratory failure requiring mechanical ventilation. His hallucinations completely subsided on mechanical ventilation. Elevated CK levels prompted a muscle biopsy, which showed myopathy consistent with acid maltase deficiency disorder (AMDD). This is the first reported case of adult onset AMDD presenting with psychiatric symptoms. Our objective in reporting this case is to encourage early recognition of neuromuscular respiratory failure in AMDD and to reinforce that respiratory failure may develop without associated extremity muscle weakness.
一位 66 岁男性出现幻觉。他的血清肌酸激酶（CK）水平长期升高，但没有肌肉无力。他的住院过程因伴有高碳酸血症的呼吸衰竭而变得复杂，需要进行机械通气。他的幻觉在机械通气后完全消失。升高的 CK 水平促使进行肌肉活检，活检显示符合酸性麦芽糖酶缺乏症（AMDD）的肌病。这是首例报告的成人发病 AMDD 出现精神症状的病例。我们报告此病例的目的是鼓励早期识别 AMDD 中的神经肌肉性呼吸衰竭，并强调呼吸衰竭可能在没有相关四肢肌肉无力的情况下发生。
